Congenital hypotonia in a child with a de novo 22q13 monosomy and 2pter duplication: a clinical and molecular genetic study

The authors describe a 5-year-old girl with a neurological phenotype of 22q13 deletion syndrome (neonatal and persisting hypotonia, developmental delay, absence of language, decreased perception of pain) and minor dysmorphisms. Subtelomeric fluorescent in situ hybridization tests revealed de novo 22q13 monosomy and 2pter duplication. Numerous genetic and neurologic disorders of childhood are characterized by congenital hypotonia. This muscle tone disorder is often one of the symptoms that a neurologist is asked to evaluate. Recent advances in genetic testing can help provide a specific diagnosis for children with this symptom. Subtelomeric deletions are a category of disorders of which hypotonia can be a prominent feature. Deletions of chromosome 22q13 are some of the most commonly observed terminal deletions in humans, whereas duplications of chromosome 2p25.2 are very rare, and little is known about the phenotypic effect of these duplications. To the best of the authors' knowledge, this association has never been described before.     

Charcot-Marie-Tooth type 1a in a child with Long QT syndrome

Charcot-Marie-Tooth disease (CMTD) is a hereditary demyelinating peripheral neuropathy clinically presenting with sensory and motor defects, but rarely affecting cardiac function. Long QT syndrome (LQTS) is a congenital or acquired cardiovascular disorder characterized by ventricular depolarization defect. No studies reported CMTD in association with LQTS. We describe a child and his family who had both CMT1A and LQTS.     

Development,confirmation, and validation of a measure of coping with colorectal cancer: a longitudinal investigation

Objective: This longitudinal study developed and confirmed the factor structure of the 32‐item Coping with Colorectal Cancer (CCRC) measure. Reliability and validity of the measure were also assessed. Methods: Participants were 1800 individuals diagnosed with colorectal cancer (CRC). A written questionnaire and a telephone interview were completed at 5 (Time 1) and 12 months post‐diagnosis (Time 2). Results: Exploratory and confirmatory factor analyses revealed eight mostly empirically distinct subscales: Positive Perceptual Change, Religion/Spirituality, Rumination, Acceptance, Humour, Palliative, Seeking Social Support, and Lifestyle Reorganisation. Internal reliabilities were adequate and comparable to other coping measures, and test–retest analyses showed moderate temporal stability of the subscales. Cross‐sectional and longitudinal regression analyses were conducted to establish criterion‐related validity. As hypothesised, after controlling for demographics, disease/treatment, and stress/coping variables, regression analyses showed that CCRC subscales uniquely predicted Time 1 quality of life (QOL) outcomes (positive affect, cancer‐related QOL, psychological distress). After controlling for Time 1 QOL, Seeking Social Support coping continued to predict Time 2 positive affect. Conclusions: Results demonstrated the preliminary validity and reliability of the CCRC subscales, and have extended the cancer coping research by revealing new relations between coping subscales and QOL in a mixed‐gender, older population with CRC. Copyright © 2008 John Wiley & Sons, Ltd.     

Levetiracetam in nonconvulsive status epilepticus in childhood: a case report

The authors report the case of a child with cerebral palsy and refractory epilepsy who developed nonconvulsive status epilepticus without acute medical cause treated successfully with levetiracetam. In accordance with other studies whose authors hypothesized that aggressive treatment may worsen the prognosis in elderly patients with nonconvulsive status epilepticus, the present authors successfully used a more conservative approach to the treatment of nonconvulsive status epilepticus in their patient. This case suggests that levetiracetam is a useful option for the treatment of nonconvulsive status epilepticus in childhood, in accordance with some authors who have described the anticonvulsant effects of levetiracetam in experimental status epilepticus and in status epilepticus in adults and in children with continuous spike waves during slow sleep.     

Kearns-Sayre syndrome and mitral valve prolapse. Description of a clinical case

We report a clinical case with chronic progressive external ophthalmoplegia, retinal pigmentation and left anterior hemiblock (Kearns-Sayre Syndrome) associated with mitral valve prolapse. The mitral valve prolapse is present in familiar neuromuscular diseases. We think that mitral valve prolapse is expression of diffuse metabolic process of muscular heart in Kearns-Sayre Syndrome.     

Peripheral circulation disturbances in two consecutive children with spinal muscular atrophy and literature review

Spinal muscular atrophy is a progressive and severe hereditary (autosomal recessive) neuromuscular disease characterized by lower motor neuron degeneration in the spinal cord and brainstem causing a clinical picture of progressive muscle atrophy and weakness of skeletal and respiratory muscles. There is an ongoing discussion on the extent to which other tissues might be affected in patients with SMA. Several animal models and some case reports or small case series report involvement of other organ systems, such as peripheral nerve, brain, muscle, heart, vascular system, and pancreas. Recent literature reviews identified a number of cases with vascular abnormalities. We present two consecutive cases of patients diagnosed with SMA who developed peripheral circulation disturbances and combine the findings with a thorough review the literature.Key words: spinal muscular atrophy, peripheral circulation disturbances, children